Varaico: Literature-Extracted Genetic Variants

Gene:MED13L
Variant:p.M864L
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MED13L

NM_015335.5:p.M864L

Associated Papers

MED13L pathogenic missense variants impair protein stability and interaction, underlying diverse clinical outcomes.

Smol T et al.

Hgg Advances, 2025

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

Dong X et al.

Journal of Medical Genetics, 2020

32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."